Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4594
Gene name Gene Name - the full gene name approved by the HGNC.
Methylmalonyl-CoA mutase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MMUT
Synonyms (NCBI Gene) Gene synonyms aliases
MCM, MUT
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme ma
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs12175488 C>A,G,T Pathogenic Missense variant, synonymous variant, coding sequence variant
rs115923556 T>C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121918248 G>A Likely-pathogenic, pathogenic Stop gained, coding sequence variant
rs121918249 A>G Likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs121918250 G>T Pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IDA 20876572
GO:0004494 Function Methylmalonyl-CoA mutase activity IBA 21873635
GO:0004494 Function Methylmalonyl-CoA mutase activity IDA 24458, 1978672, 2453061, 21138732, 28943303
GO:0004494 Function Methylmalonyl-CoA mutase activity IMP 27167370, 28101778
GO:0005515 Function Protein binding IPI 20876572, 21138732, 28497574, 28943303, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609058 7526 ENSG00000146085
Protein
UniProt ID P22033
Protein name Methylmalonyl-CoA mutase, mitochondrial (MCM) (EC 5.4.99.2) (Methylmalonyl-CoA isomerase)
Protein function Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermedia
PDB 2XIJ , 2XIQ , 3BIC , 8DYJ , 8DYL , 8GJU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01642 MM_CoA_mutase 62 574 Methylmalonyl-CoA mutase Family
PF02310 B12-binding 615 733 B12 binding domain Domain
Sequence
Sequence length 750
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism
Cobalamin transport and metabolism
  Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MMAA causes methylmalonic aciduria type cblA
Defective MUT causes methylmalonic aciduria mut type
Propionyl-CoA catabolism
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Cardiomyopathy Cardiomyopathies, Cardiomyopathy, Familial Idiopathic rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
27604308
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Pancreatitis Pancreatitis ClinVar
Methylmalonic Aciduria methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency GenCC
Oligodendroglioma Oligodendroglioma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Stimulate 37052042
Carcinoma Pancreatic Ductal Associate 26063742
Colonic Neoplasms Associate 26063742
Dimauro disease Inhibit 1970180
Dimauro disease Associate 1970180
Genetic Diseases Inborn Associate 1970180
Genetic Diseases Inborn Inhibit 32068834
Hypersensitivity Delayed Associate 40243530
Hypoproteinemia Associate 36275653
Inflammation Associate 39596217